Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
Tavassoli
K
K
Institut für Humangenetik der Westfälischen, Wilhelms-Universität Münster, Germany.
Eigel
A
A
Dworniczak
B
B
Valtseva
E
E
Horst
J
J
D019943:Amino Acid Substitution; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D016368:Frameshift Mutation; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
D018076:DNA, Complementary; D005169:Factor VIII